The Genetics of Age-Related Macular Degeneration in African-Americans

Jonathan Haines, PhD
Vanderbilt University Medical Center (Nashville, TN)

Co-Principal Investigators

Anita L Agarwal, MD
Vanderbilt University
Year Awarded:
Grant Duration:
July 1, 2011 to June 30, 2013
Macular Degeneration
Award Amount:
Grant Reference ID:
Award Type:
Award Region:
US Southeastern

The Genetics of AMD in African-Americans


The primary goal of this project is ascertain at least 100 African-American individuals with age-related macular degeneration and 100 African-American unrelated controls. We will use multiple modalities to identify and enroll these individuals. We will then test this dataset for known genetic risk factors to determine if these effects generalize in the African-American population.


Many of the risk genes for age‐related macular degeneration (AMD) were discovered by looking at DNA samples from Caucasian (white with European ancestry) subjects. Drs. Jonathan Haines, Anita Agarwal, and collaborators will look for new risk genes by comparing the “spelling” of the DNA of African‐Americans with AMD to the DNA from unrelated African‐Americans without AMD. If this group discovers new risk genes, then it may imply that AMD starts and/or progresses in African‐Americans in a different way than it does for other ethnicities. However, the identity of the genes from this study may give ideas for new types of preventions and treatments for everyone diagnosed with AMD.

Research Updates

The goal of this study is to better understand the genetic risk factors for AMD in African-Americans. The first step in this inquiry is to develop a dataset of African-American AMD cases and controls. This is difficult because AMD is much less common in African Americans than in European Caucasians. Dr. Haines’ and Agarwal’s team is using many methods to identify these individuals, including recruiting from multiple clinics and directly from the community. The team has spent substantial energy in developing contacts and giving presentations to various lay groups (e.g. churches, senior centers). They have now enrolled 44 African-American individuals (16 with some level of AMD, 28 controls). Once they have enrolled enough individuals, the team will also compare for the effects of the known genetic risk factors already identified in European Caucasians. Preliminary data suggests that the known genetic risk factors may act differently in African-Americans. If true, this has very significant implications for developing and applying predictive risk models. In addition, these data may help clarify the underlying disease processes, which will improve the ability to develop more effective preventions or treatments for all individuals with AMD.
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